The pathophysiology of myocardial calcifications is variable and may have potentially fatal consequences if undiagnosed and untreated.
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| http://dx.doi.org/10.1148/ryct.2020190204 | DOI Listing |
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Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta.
Turk J Pediatr
November 2024
Department of Cardiology, Hacettepe University Hospital, Ankara, Türkiye.
Background: Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is characterized by cardiovascular involvement, eye-movement disorders, and late-onset neurological symptoms.
Case Presentation: We present a 14-year-old adolescent boy diagnosed with Gaucher disease type IIIC at age four with a homozygous D409H mutation who developed severe aortic valve stenosis, extensive aortic calcification and a porcelain aorta despite enzyme replacement treatment since the diagnosis.
Pulmonary valve replacement for porcelain right ventricular outflow tract following repeated surgical intervention.
Gen Thorac Cardiovasc Surg Cases
January 2024
Department of Cardiovascular Surgery, Kyushu University Hospital, 3-1-1, Maidashi, Higashi-Ku, Fukuoka, 812-8582, Japan.
Article Synopsis
- * A 43-year-old patient with a history of multiple valve replacements experienced severe heart failure and protein loss, but was successfully treated with additional valve replacements using a mechanical valve despite significant surgical risks due to adhesions and calcification.
- * The surgery provided relief from heart failure and related symptoms, demonstrating that this approach can yield better results compared to traditional methods when dealing with severe complications in the right ventricular outflow tract.
Porcelain heart.
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Unexpected porcelain aorta is a real challenge to safely completing aortic valve replacement combined with coronary artery surgery. This condition often leads to an aborted sternotomy in the hope of performing transcatheter procedures, the feasibility of which may be hampered by anatomical considerations. We report the case of a 71-year old man with history of hypertension, type 2 diabetes mellitus and chronic kidney disease, which was referred for severe aortic valve stenosis and severe coronary artery disease.
View Article and Find Full Text PDFPorcelain heart.
Eur Heart J Cardiovasc Imaging
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